Human Gene MAGOHB (uc001qyq.2) Description and Page Index
  Description: Homo sapiens mago-nashi homolog B (Drosophila) (MAGOHB), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr12:10,756,364-10,766,208 Size: 9,845 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr12:10,758,874-10,766,131 Size: 7,258 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:10,756,364-10,766,208)mRNA (may differ from genome)Protein (148 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMGIneXtProt
PubMedReactomeStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
  ID: MGN2_HUMAN
DESCRIPTION: RecName: Full=Protein mago nashi homolog 2;
FUNCTION: Involved in mRNA splicing and in the nonsense-mediated decay (NMD) pathway (By similarity).
SUBUNIT: Interacts with RBM8A and is part of the exon junction complex (EJC) containing NCBP1, NCBP2, RNPS1, RBM8A, SRRM1, NXF1, UPF3B, UPF2 and ALYREF/THOC4. Remains associated with the mRNA after its export to the cytoplasm and require translation of the mRNA for removal (By similarity).
SUBCELLULAR LOCATION: Nucleus (By similarity).
TISSUE SPECIFICITY: Ubiquitous.
SIMILARITY: Belongs to the mago nashi family.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): MAGOHB
CDC HuGE Published Literature: MAGOHB
Positive Disease Associations: Aorta , Hip , Lipoproteins, VLDL
Related Studies:
  1. Aorta
    Christopher J O'Donnell et al. BMC medical genetics 2007, Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study., BMC medical genetics. [PubMed 17903303]
    The results from this GWAS generate hypotheses regarding several SNPs that may be associated with SCA phenotypes in multiple arterial beds. Given the number of tests conducted, subsequent independent replication in a staged approach is essential to identify genetic variants that may be implicated in atherosclerosis.
  2. Hip
    Douglas P Kiel et al. BMC medical genetics 2007, Genome-wide association with bone mass and geometry in the Framingham Heart Study., BMC medical genetics. [PubMed 17903296]
    The FHS 100K SNP project offers an unbiased genome-wide strategy to identify new candidate loci and to replicate previously suggested candidate genes for osteoporosis.
  3. Lipoproteins, VLDL
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
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-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.86 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 236.49 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -24.0077-0.312 Picture PostScript Text
3' UTR -609.102510-0.243 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004023 - Mago_nashi

Pfam Domains:
PF02792 - Mago nashi protein

SCOP Domains:
89817 - Mago nashi protein

ModBase Predicted Comparative 3D Structure on Q96A72
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene Details  Gene DetailsGene Details 
Gene Sorter  Gene SorterGene Sorter 
  EnsemblFlyBaseWormBase 
  Protein SequenceProtein SequenceProtein Sequence 
  AlignmentAlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0005515 protein binding

Biological Process:
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
GO:0000398 mRNA splicing, via spliceosome
GO:0006397 mRNA processing
GO:0006405 RNA export from nucleus
GO:0006406 mRNA export from nucleus
GO:0008380 RNA splicing
GO:0031124 mRNA 3'-end processing
GO:0051028 mRNA transport

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0035145 exon-exon junction complex
GO:0043025 neuronal cell body
GO:0071013 catalytic step 2 spliceosome


-  Descriptions from all associated GenBank mRNAs
  AK022720 - Homo sapiens cDNA FLJ12658 fis, clone NT2RM4002146, weakly similar to Homo sapiens MAGOH mRNA.
JD092376 - Sequence 73400 from Patent EP1572962.
JD552819 - Sequence 533843 from Patent EP1572962.
JD308503 - Sequence 289527 from Patent EP1572962.
JD355063 - Sequence 336087 from Patent EP1572962.
JD449640 - Sequence 430664 from Patent EP1572962.
JD403488 - Sequence 384512 from Patent EP1572962.
JD188595 - Sequence 169619 from Patent EP1572962.
JD386249 - Sequence 367273 from Patent EP1572962.
JD549875 - Sequence 530899 from Patent EP1572962.
JD507863 - Sequence 488887 from Patent EP1572962.
JD095347 - Sequence 76371 from Patent EP1572962.
JD511285 - Sequence 492309 from Patent EP1572962.
JD247738 - Sequence 228762 from Patent EP1572962.
JD360455 - Sequence 341479 from Patent EP1572962.
JD172515 - Sequence 153539 from Patent EP1572962.
JD563365 - Sequence 544389 from Patent EP1572962.
JD181652 - Sequence 162676 from Patent EP1572962.
JD309772 - Sequence 290796 from Patent EP1572962.
JD507852 - Sequence 488876 from Patent EP1572962.
AK001154 - Homo sapiens cDNA FLJ10292 fis, clone NT2RM1000257, highly similar to MAGO NASHI PROTEIN.
BC000928 - Homo sapiens cDNA clone IMAGE:3447677, **** WARNING: chimeric clone ****.
AK096106 - Homo sapiens cDNA FLJ38787 fis, clone LIVER2001835, moderately similar to MAGO NASHI PROTEIN.
AF165518 - Homo sapiens MAGOH isoform (MAGOH) mRNA, complete cds.
BC010905 - Homo sapiens mago-nashi homolog B (Drosophila), mRNA (cDNA clone MGC:13418 IMAGE:4283108), complete cds.
JD501946 - Sequence 482970 from Patent EP1572962.
KF051004 - Homo sapiens mago nashi protein mRNA, complete cds.
AB528590 - Synthetic construct DNA, clone: pF1KB5823, Homo sapiens MAGOHB gene for mago-nashi homolog B, without stop codon, in Flexi system.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa03040 - Spliceosome

Reactome (by CSHL, EBI, and GO)

Protein Q96A72 (Reactome details) participates in the following event(s):

R-HSA-156661 Formation of Exon Junction Complex
R-HSA-8849157 TREX complex binds spliced, capped mRNA:CBC:EJC cotranscriptionally
R-HSA-72185 mRNA polyadenylation
R-HSA-72180 Cleavage of mRNA at the 3'-end
R-HSA-75096 Docking of the TAP:EJC Complex with the NPC
R-HSA-159101 NXF1:NXT1 (TAP:p15) binds capped mRNA:CBC:EJC:TREX (minus DDX39B)
R-HSA-927832 UPF1 binds an mRNP with a termination codon preceding an Exon Junction Complex
R-HSA-75098 mRNP complex dissociates from cytosolic face of NPC
R-HSA-927889 SMG1 phosphorylates UPF1 (enhanced by Exon Junction Complex)
R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-72172 mRNA Splicing
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA
R-HSA-9010553 Regulation of expression of SLITs and ROBOs
R-HSA-72187 mRNA 3'-end processing
R-HSA-109688 Cleavage of Growing Transcript in the Termination Region
R-HSA-159236 Transport of Mature mRNA derived from an Intron-Containing Transcript
R-HSA-8953854 Metabolism of RNA
R-HSA-975957 Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
R-HSA-376176 Signaling by ROBO receptors
R-HSA-73856 RNA Polymerase II Transcription Termination
R-HSA-72202 Transport of Mature Transcript to Cytoplasm
R-HSA-927802 Nonsense-Mediated Decay (NMD)
R-HSA-422475 Axon guidance
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-1266738 Developmental Biology
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: MAGOH2, MGN2_HUMAN, NM_018048, NP_060518, Q96A72
UCSC ID: uc001qyq.2
RefSeq Accession: NM_018048
Protein: Q96A72 (aka MGN2_HUMAN)
CCDS: CCDS8628.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_018048.3
exon count: 5CDS single in 3' UTR: no RNA size: 3034
ORF size: 447CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1027.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.